← 返回搜尋

Osteogenesis imperfecta

ORPHA:666 · Disease · Disorder

HPO 表現型（共 113 項）

Very frequent (99-80%)(19)

  • Abnormal dental enamel morphologyHP:0000682
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal rib morphologyHP:0000772
  • Abnormal tibia morphologyHP:0002992
  • Abnormality of dental colorHP:0011073
  • BrachycephalyHP:0000248
  • Carious teethHP:0000670
  • Convex nasal ridgeHP:0000444
  • Decreased skull ossificationHP:0004331
  • Diaphyseal undertubulationHP:0005019
  • Gait disturbanceHP:0001288
  • Hearing impairmentHP:0000365
  • Intrauterine growth retardationHP:0001511
  • MacrocephalyHP:0000256
  • MicrognathiaHP:0000347
  • Mixed hearing impairmentHP:0000410
  • Pectus carinatumHP:0000768
  • Prominent occiputHP:0000269
  • Thin ribsHP:0000883

Frequent (79-30%)(39)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal cortical bone morphologyHP:0003103
  • Abnormal femur morphologyHP:0002823
  • Abnormal hip bone morphologyHP:0003272
  • Abnormal long bone morphologyHP:0011314
  • Abnormal vertebral body morphologyHP:0003312
  • Abnormality of the dentitionHP:0000164
  • AnxietyHP:0000739
  • Biconcave vertebral bodiesHP:0004586
  • Blue scleraeHP:0000592
  • Bone painHP:0002653
  • Corneal opacityHP:0007957
  • Cutis laxaHP:0000973
  • Dental malocclusionHP:0000689
  • Dentinogenesis imperfectaHP:0000703
  • Enlarged vertebral pediclesHP:0004621
  • Exercise intoleranceHP:0003546
  • FatigueHP:0012378
  • Femoral bowingHP:0002980
  • Genu valgumHP:0002857
  • GlaucomaHP:0000501
  • HypercalciuriaHP:0002150
  • HyperhidrosisHP:0000975
  • Increased susceptibility to fracturesHP:0002659
  • Joint hypermobilityHP:0001382
  • Large fontanellesHP:0000239
  • Loss of ambulationHP:0002505
  • Multiple rib fracturesHP:0006640
  • Narrow chestHP:0000774
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939
  • Progressive hearing impairmentHP:0001730
  • Recurrent fracturesHP:0002757
  • Recurrent long bone fracturesHP:0003084
  • Reduced bone mineral densityHP:0004349
  • Short statureHP:0004322
  • Slender long boneHP:0003100
  • Vertebral compression fractureHP:0002953
  • Visual impairmentHP:0000505

Occasional (29-5%)(33)

  • Abnormal endocardium morphologyHP:0004306
  • ArthralgiaHP:0002829
  • Bowing of the long bonesHP:0006487
  • Bruising susceptibilityHP:0000978
  • Calcification of the interosseus membrane of the forearmHP:0030267
  • ConstipationHP:0002019
  • Delayed eruption of teethHP:0000684
  • Dislocated radial headHP:0003083
  • DysphagiaHP:0002015
  • Flexion contractureHP:0001371
  • Growth delayHP:0001510
  • Hyperplastic callus formationHP:0030268
  • Inguinal herniaHP:0000023
  • Intestinal obstructionHP:0005214
  • Kidney stoneHP:0000787
  • KyphosisHP:0002808
  • MicromeliaHP:0002983
  • Morphological central nervous system abnormalityHP:0002011
  • OsteoarthritisHP:0002758
  • ParesthesiaHP:0003401
  • Pectus excavatumHP:0000767
  • Protrusio acetabuliHP:0003179
  • Relative macrocephalyHP:0004482
  • ScoliosisHP:0002650
  • Small for gestational ageHP:0001518
  • Somatic sensory dysfunctionHP:0003474
  • ThrombocytopeniaHP:0001873
  • Triangular faceHP:0000325
  • Trigeminal neuralgiaHP:0100661
  • Umbilical herniaHP:0001537
  • VentriculomegalyHP:0002119
  • Visceral angiomatosisHP:0100761
  • Wormian bonesHP:0002645

Very rare (<4-1%)(22)

  • Aortic aneurysmHP:0004942
  • Aortic dissectionHP:0002647
  • Aortic regurgitationHP:0001659
  • Aortic root aneurysmHP:0002616
  • Arterial dissectionHP:0005294
  • AtaxiaHP:0001251
  • Basilar invaginationHP:0012366
  • Brain stem compressionHP:0002512
  • Cerebral hemorrhageHP:0001342
  • Cervical kyphosisHP:0002947
  • Cranial nerve paralysisHP:0006824
  • HeadacheHP:0002315
  • HydrocephalusHP:0000238
  • Mitral valve prolapseHP:0001634
  • Neonatal respiratory distressHP:0002643
  • Noncommunicating hydrocephalusHP:0010953
  • NystagmusHP:0000639
  • Pulmonary hypoplasiaHP:0002089
  • RhizomeliaHP:0008905
  • SyringomyeliaHP:0003396
  • TetraparesisHP:0002273
  • Thoracic hypoplasiaHP:0005257